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Aliases for APEH Gene

Aliases for APEH Gene

  • Acylaminoacyl-Peptide Hydrolase 2 3 5
  • Acylaminoacyl-Peptidase 2 3 4
  • N-Acylaminoacyl-Peptide Hydrolase 2 3
  • Acylamino-Acid-Releasing Enzyme 2 3
  • Oxidized Protein Hydrolase 3 4
  • Acyl-Peptide Hydrolase 3 4
  • EC 3.4.19.1 4 61
  • D3F15S2 3 4
  • DNF15S2 3 4
  • D3S48E 3 4
  • AARE 3 4
  • APH 3 4
  • OPH 3 4
  • ACPH 3

External Ids for APEH Gene

Previous HGNC Symbols for APEH Gene

  • D3F15S2
  • DNF15S2
  • D3S48E

Previous GeneCards Identifiers for APEH Gene

  • GC03U990008
  • GC03M048683
  • GC03P049565
  • GC03P049670
  • GC03P049686
  • GC03P049711

Summaries for APEH Gene

Entrez Gene Summary for APEH Gene

  • This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]

GeneCards Summary for APEH Gene

APEH (Acylaminoacyl-Peptide Hydrolase) is a Protein Coding gene. Diseases associated with APEH include Renal Cell Carcinoma and Barbiturate Dependence. Among its related pathways are Immune System and Viral mRNA Translation. GO annotations related to this gene include poly(A) RNA binding and serine-type endopeptidase activity.

UniProtKB/Swiss-Prot for APEH Gene

  • This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to generate an N-acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala, Ac-Met and Ac-Ser.

Gene Wiki entry for APEH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APEH Gene

Genomics for APEH Gene

Regulatory Elements for APEH Gene

Enhancers for APEH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F049694 0.5 ENCODE 12.2 +22.1 22106 1.3 ZNF664 ZFHX2 PKNOX1 EGR2 WDR6 AMIGO3 GMPPB APEH BSN-AS1 BSN AMT C3orf18 MST1
GH03F049454 1.4 Ensembl ENCODE 11.8 -217.6 -217559 2.6 CTCF SAP130 JUN MAX ARID4B ZMYM3 RAD21 TEAD3 ZNF664 ZFHX2 APEH FAM212A GC03M049467 RNA5SP130 NICN1
GH03F049553 0.5 ENCODE 11.7 -119.0 -119006 1.7 HDGF ATF1 PKNOX1 MLX ARID4B SIN3A YBX1 DMAP1 ELK1 ZNF143 APEH BSN-AS2 PIR41851
GH03F049338 0.7 FANTOM5 ENCODE 11.5 -327.1 -327081 14.7 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 AMT QRICH1 BSN-AS1 IMPDH2 LOC105377080 DALRD3 RHOA C3orf84 PHF5EP WDR6
GH03F049524 1.1 ENCODE 10.9 -148.8 -148828 0.2 IKZF1 SPI1 BSN BSN-AS2 BSN-AS1 APEH PIR41851 DAG1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around APEH on UCSC Golden Path with GeneCards custom track

Promoters for APEH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001479046 1070 1601 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for APEH Gene

Chromosome:
3
Start:
49,673,130 bp from pter
End:
49,683,963 bp from pter
Size:
10,834 bases
Orientation:
Plus strand

Genomic View for APEH Gene

Genes around APEH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APEH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APEH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APEH Gene

Proteins for APEH Gene

  • Protein details for APEH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13798-ACPH_HUMAN
    Recommended name:
    Acylamino-acid-releasing enzyme
    Protein Accession:
    P13798
    Secondary Accessions:
    • Q9BQ33
    • Q9P0Y2

    Protein attributes for APEH Gene

    Size:
    732 amino acids
    Molecular mass:
    81225 Da
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=AAA35769.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for APEH Gene

Selected DME Specific Peptides for APEH Gene

P13798:
  • SPRLSPDQCR
  • GGKCELLSD
  • QVLQEEHFDA
  • YRTVHTEWTQRDL
  • LLVNYRGSTGFGQDSILSLPGNVG
  • EEKQFLEVWEKNRKLKSFNLSALEKHGPVYEDDCFGCLSW
  • SCHLIGQYPETY
  • EAAALYRGLSRQP
  • LKVGFLP
  • VPRQLGE
  • RMENIRFCRQYLVFHDGDSVVFAGPAGNSVET
  • KKPDQAIKGDQF
  • QRSRQDLFAVDTQ
  • GSWKLLTID
  • PAMLCKMGFA
  • CTNRRSALYYVDL
  • FSGIYCSLLPLGCWSADSQRVVFD
  • LSAACLGPEVTTQYGG

Post-translational modifications for APEH Gene

  • Ubiquitination at Lys 131, Lys 180, Lys 291, Lys 443, Lys 664, Lys 681, and Lys 704
  • Modification sites at PhosphoSitePlus

Domains & Families for APEH Gene

Suggested Antigen Peptide Sequences for APEH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P13798

UniProtKB/Swiss-Prot:

ACPH_HUMAN :
  • Belongs to the peptidase S9C family.
Family:
  • Belongs to the peptidase S9C family.
genes like me logo Genes that share domains with APEH: view

No data available for Gene Families for APEH Gene

Function for APEH Gene

Molecular function for APEH Gene

GENATLAS Biochemistry:
N-acylaminoacyl-peptide hydrolase,with reduced expression in renal cell carcinoma (see D3F15S2,D3S94,TSG3C),highly homolog to the tightly linked MST1 gene
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of an N-acetyl or N-formyl amino acid from the N-terminus of a polypeptide.
UniProtKB/Swiss-Prot Function:
This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to generate an N-acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala, Ac-Met and Ac-Ser.

Enzyme Numbers (IUBMB) for APEH Gene

Gene Ontology (GO) - Molecular Function for APEH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 16189514
GO:0008236 serine-type peptidase activity IEA --
GO:0008242 omega peptidase activity IDA 17241160
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with APEH: view
genes like me logo Genes that share phenotypes with APEH: view

Animal Model Products

  • Taconic Biosciences Mouse Models for APEH

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for APEH Gene

Localization for APEH Gene

Subcellular locations from UniProtKB/Swiss-Prot for APEH Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APEH Gene COMPARTMENTS Subcellular localization image for APEH gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
lysosome 2
plasma membrane 2
vacuole 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for APEH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0031965 nuclear membrane IDA --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with APEH: view

Pathways & Interactions for APEH Gene

genes like me logo Genes that share pathways with APEH: view

Pathways by source for APEH Gene

Gene Ontology (GO) - Biological Process for APEH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006415 translational termination TAS --
GO:0006508 proteolysis IEA,IDA 17241160
GO:0050435 beta-amyloid metabolic process IDA 17241160
genes like me logo Genes that share ontologies with APEH: view

No data available for SIGNOR curated interactions for APEH Gene

Drugs & Compounds for APEH Gene

(6) Drugs for APEH Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(13) Additional Compounds for APEH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with APEH: view

Transcripts for APEH Gene

Unigene Clusters for APEH Gene

N-acylaminoacyl-peptide hydrolase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for APEH Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17 ^ 18a ·
SP1: - -
SP2: - - - -
SP3:
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9: - - - -

ExUns: 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for APEH Gene

GeneLoc Exon Structure for
APEH
ECgene alternative splicing isoforms for
APEH

Expression for APEH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APEH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for APEH Gene

This gene is overexpressed in Lymph node (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APEH Gene



Protein tissue co-expression partners for APEH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APEH Gene:

APEH

SOURCE GeneReport for Unigene cluster for APEH Gene:

Hs.517969
genes like me logo Genes that share expression patterns with APEH: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for APEH Gene

Orthologs for APEH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for APEH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APEH 34 35
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia APEH 34 35
  • 91.8 (n)
cow
(Bos Taurus)
Mammalia APEH 34 35
  • 90.49 (n)
mouse
(Mus musculus)
Mammalia Apeh 34 16 35
  • 89.16 (n)
rat
(Rattus norvegicus)
Mammalia Apeh 34
  • 88.93 (n)
oppossum
(Monodelphis domestica)
Mammalia APEH 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APEH 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves APEH 34 35
  • 70.33 (n)
lizard
(Anolis carolinensis)
Reptilia APEH 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apeh 34
  • 64.77 (n)
Str.7036 34
zebrafish
(Danio rerio)
Actinopterygii APEH (3 of 4) 35
  • 62 (a)
OneToMany
CABZ01074181.1 35
  • 62 (a)
OneToMany
apeh 34 35
  • 61.92 (n)
APEH (2 of 4) 35
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dpf-5 34 35
  • 45.87 (n)
R11E3.8 36
  • 33 (a)
dpf-4 35
  • 18 (a)
OneToMany
dpf-6 35
  • 15 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G14570 34
  • 45.25 (n)
rice
(Oryza sativa)
Liliopsida Os10g0415800 34
  • 44.68 (n)
Species where no ortholog for APEH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for APEH Gene

ENSEMBL:
Gene Tree for APEH (if available)
TreeFam:
Gene Tree for APEH (if available)

Paralogs for APEH Gene

No data available for Paralogs for APEH Gene

Variants for APEH Gene

Sequence variations from dbSNP and Humsavar for APEH Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10603667 -- 49,671,157(+) GCGTG(-/CG)TGTGT upstream-variant-2KB, utr-variant-3-prime
rs1060970 -- 49,671,336(+) CTCCT(C/T)CTTTA upstream-variant-2KB, utr-variant-3-prime
rs10687387 -- 49,672,049(+) TTTTT(-/T)AACAC intron-variant, upstream-variant-2KB
rs11130213 -- 49,674,864(+) TCAAA(C/T)CTGGG intron-variant
rs111331609 -- 49,676,498(+) CTGAG(A/G)ATGTG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for APEH Gene

Variant ID Type Subtype PubMed ID
esv28815 CNV gain+loss 19812545
nsv1141429 CNV duplication 24896259
nsv1148681 CNV duplication 26484159
nsv508217 CNV deletion 20534489
nsv820990 CNV duplication 20802225

Variation tolerance for APEH Gene

Residual Variation Intolerance Score: 9.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APEH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APEH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APEH Gene

Disorders for APEH Gene

MalaCards: The human disease database

(6) MalaCards diseases for APEH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
barbiturate dependence
peliosis hepatis
  • hepatic peliosis
uterine disease
  • uterine diseases
rubeosis iridis
- elite association - COSMIC cancer census association via MalaCards
Search APEH in MalaCards View complete list of genes associated with diseases

Relevant External Links for APEH

Genetic Association Database (GAD)
APEH
Human Genome Epidemiology (HuGE) Navigator
APEH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APEH
genes like me logo Genes that share disorders with APEH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APEH Gene

Publications for APEH Gene

  1. Identification of oxidized protein hydrolase of human erythrocytes as acylpeptide hydrolase. (PMID: 10719179) Fujino T. … Yasuda H. (Biochim. Biophys. Acta 2000) 3 4 22 64
  2. The nucleotide sequence of human acylamino acid-releasing enzyme. (PMID: 8724851) Mitta M. … Tsunasawa S. (DNA Res. 1996) 3 4 22 64
  3. Crystallization and preliminary X-ray studies of human erythrocyte acylpeptide hydrolase. (PMID: 8411161) Feese M. … Remington S.J. (J. Mol. Biol. 1993) 3 4 22 64
  4. Acylpeptide hydrolase: inhibitors and some active site residues of the human enzyme. (PMID: 1740429) Scaloni A. … Manning J.M. (J. Biol. Chem. 1992) 3 4 22 64
  5. The gene from the short arm of chromosome 3, at D3F15S2, frequently deleted in renal cell carcinoma, encodes acylpeptide hydrolase. (PMID: 1861871) Erlandsson R. … Joernvall H. (Oncogene 1991) 3 4 22 64

Products for APEH Gene

Sources for APEH Gene

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